Aimee D C Paulussen

Affiliations

Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.

Publications (17)

Genome sequencing as a generic diagnostic strategy for rare disease.

Genome medicine

Avec: Gaby Schobers , Ronny Derks , Amber den Ouden , Hilde Swinkels , Jeroen van Reeuwijk , Ermanno Bosgoed , Dorien Lugtenberg , Su Ming Sun , Jordi Corominas Galbany , Marjan Weiss , Marinus J Blok , Richelle A C M Olde Keizer , Tom Hofste , Debby Hellebrekers , Nicole de Leeuw , Alexander Stegmann , Erik-Jan Kamsteeg , Aimee D C Paulussen , Marjolijn J L Ligtenberg , Xiangqun Zheng Bradley , John Peden , Alejandra Gutierrez , Adam Pullen , Tom Payne , Christian Gilissen , Arthur van den Wijngaard , Han G Brunner , Marcel Nelen , Helger G Yntema , Lisenka E L M Vissers

Preimplantation Genetic Testing for Monogenic Kidney Disease.

Clinical journal of the American Society of Nephrology : CJASN

Avec: Rozemarijn Snoek , Marijn F Stokman , Klaske D Lichtenbelt , Theodora C van Tilborg , Cindy E Simcox , Aimée D C Paulussen , Jos C M F Dreesen , Franka van Reekum , A Titia Lely , Nine V A M Knoers , Christine E M de Die-Smulders , Albertien M van Eerde

Liquid biopsy: state of reproductive medicine and beyond.

Human reproduction (Oxford, England)

Avec: Gaby Schobers , Rebekka Koeck , Dominique Pellaers , Servi J C Stevens , Merryn V E Macville , Aimée D C Paulussen , Edith Coonen , Arthur van den Wijngaard , Christine de Die-Smulders , Guido de Wert , Han G Brunner , Masoud Zamani Esteki

Consanguineous couples' experiences and views regarding expanded carrier screening: Barriers and facilitators in the decision-making process.

European journal of human genetics : EJHG

Avec: Sanne van der Hout , Anke J Woudstra , Wybo Dondorp , Suzanne Sallevelt , Christine de Die-Smulders , Aimee D C Paulussen , Guido de Wert

Reproductive options and genetic testing for patients with an inherited cardiac disease.

Nature reviews. Cardiology

Avec: Job A J Verdonschot , Aimee D C Paulussen , Neal K Lakdawala , Christine E M de Die-Smulders , James S Ware , Jodie Ingles

Preimplantation genetic testing for more than one genetic condition: clinical and ethical considerations and dilemmas.

Human reproduction (Oxford, England)

Avec: V van der Schoot , W Dondorp , J C F M Dreesen , E Coonen , A D C Paulussen , G de Wert , C E M de Die-Smulders

Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Suzanne C E H Sallevelt , Alexander P A Stegmann , Bart de Koning , Crool Velter , Anja Steyls , Melanie van Esch , Phillis Lakeman , Helger Yntema , Masoud Zamani Esteki , Christine E M de Die-Smulders , Christian Gilissen , Arthur van den Wijngaard , Han G Brunner , Aimée D C Paulussen

Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases.

Circulation. Genomic and precision medicine

Avec: Job A J Verdonschot , Debby M E I Hellebrekers , Vanessa P M van Empel , Malou Heijligers , Sonja de Munnik , Edith Coonen , Jos C M F Dreesen , Arthur van den Wijngaard , Han G Brunner , Masoud Zamani Esteki , Stephane R B Heymans , Christine E M de Die-Smulders , Aimée D C Paulussen

Embryo tracking system for high-throughput sequencing-based preimplantation genetic testing.

Human reproduction (Oxford, England)

Avec: Wanwisa van Dijk , Kasper Derks , Marion Drüsedau , Jeroen Meekels , Rebekka Koeck , Rick Essers , Joseph Dreesen , Edith Coonen , Christine de Die-Smulders , Servi J C Stevens , Han G Brunner , Arthur van den Wijngaard , Aimée D C Paulussen , Masoud Zamani Esteki

Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing.

Nature communications

Avec: Anouk E J Janssen , Rebekka M Koeck , Rick Essers , Ping Cao , Wanwisa van Dijk , Marion Drüsedau , Jeroen Meekels , Burcu Yaldiz , Maartje van de Vorst , Bart de Koning , Debby M E I Hellebrekers , Servi J C Stevens , Su Ming Sun , Malou Heijligers , Sonja A de Munnik , Chris M J van Uum , Jelle Achten , Lars Hamers , Marjan Naghdi , Lisenka E L M Vissers , Ron J T van Golde , Guido de Wert , Jos C F M Dreesen , Christine de Die-Smulders , Edith Coonen , Han G Brunner , Arthur van den Wijngaard , Aimee D C Paulussen , Masoud Zamani Esteki

New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients.

RNA (New York, N.Y.)

Avec: Audric Cologne , Clara Benoit-Pilven , Alicia Besson , Audrey Putoux , Amandine Campan-Fournier , Michael B Bober , Christine E M De Die-Smulders , Aimee D C Paulussen , Lucile Pinson , Annick Toutain , Chaim M Roifman , Anne-Louise Leutenegger , Sylvie Mazoyer , Patrick Edery , Vincent Lacroix

Evolution of Dihydropyrimidine Dehydrogenase Diagnostic Testing in a Single Center during an 8-Year Period of Time.

Current therapeutic research, clinical and experimental

Avec: Marieke J H Coenen , Aimée D C Paulussen , Marc Breuer , Martijn Lindhout , Demis C J Tserpelis , Anja Steyls , Jörgen Bierau , Bianca J C van den Bosch

Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq.

NPJ genomic medicine

Avec: R Koster , R D Brandão , D Tserpelis , C E P van Roozendaal , C N van Oosterhoud , K B M Claes , A D C Paulussen , M Sinnema , M Vreeburg , V van der Schoot , C T R M Stumpel , M P G Broen , L Spruijt , M C J Jongmans , S A J Lesnik Oberstein , A S Plomp , M Misra-Isrie , F A Duijkers , M J Louwers , R Szklarczyk , K W J Derks , H G Brunner , A van den Wijngaard , M van Geel , M J Blok

Detection of

Biomedicines

Avec: Guido M J M Roemen , Tom E J Theunissen , Ward W J Hoezen , Anja R M Steyls , Aimee D C Paulussen , Klara Mosterd , Elisa Rahikkala , Axel Zur Hausen , Ernst Jan M Speel , Michel van Geel

Metabolic events in HIV-infected patients using abacavir are associated with erythrocyte inosine triphosphatase activity.

The Journal of antimicrobial chemotherapy

Avec: N Chantal Peltenburg , Jörgen Bierau , Jolanda A Schippers , Selwyn H Lowe , Aimée D C Paulussen , Bianca J C van den Bosch , Mathie P G Leers , Eleni-Rosalina Andrinopoulou , Jaap A Bakker , Annelies Verbon

Facioscapulohumeral muscular dystrophy-Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease.

Clinical genetics

Avec: Sanne C C Vincenten , Nienke Van Der Stoep , Aimée D C Paulussen , Karlien Mul , Umesh A Badrising , Marjolein Kriek , Olivier W H Van Der Heijden , Baziel G M Van Engelen , Nicol C Voermans , Christine E M De Die-Smulders , Saskia Lassche

Preimplantation genetic testing for Neurofibromatosis type 1: more than 20 years of clinical experience.

European journal of human genetics : EJHG

Avec: Vivian Vernimmen , Aimée D C Paulussen , Jos C F M Dreesen , Ron J van Golde , Masoud Zamani Esteki , Edith Coonen , Marianne L van Buul-van Zwet , Irene Homminga , Alwin A H A Derijck , Lloyd Brandts , Constance T R M Stumpel , Christine E M de Die-Smulders

Réseau de co-auteurs

Aimée D C Paulussen 9 collaborations

Arthur van den Wijngaard 6 collaborations

Han G Brunner 6 collaborations

Masoud Zamani Esteki 6 collaborations

Christine E M de Die-Smulders 5 collaborations

Edith Coonen 5 collaborations

Christine de Die-Smulders 4 collaborations

Servi J C Stevens 3 collaborations

Guido de Wert 3 collaborations

Gaby Schobers 2 collaborations

Su Ming Sun 2 collaborations

Christian Gilissen 2 collaborations

Lisenka E L M Vissers 2 collaborations

Jos C M F Dreesen 2 collaborations

Rebekka Koeck 2 collaborations

Job A J Verdonschot 2 collaborations

V van der Schoot 2 collaborations

A D C Paulussen 2 collaborations

Bart de Koning 2 collaborations

Anja Steyls 2 collaborations

Debby M E I Hellebrekers 2 collaborations

Malou Heijligers 2 collaborations

Wanwisa van Dijk 2 collaborations

Marion Drüsedau 2 collaborations

Jeroen Meekels 2 collaborations

Rick Essers 2 collaborations

Jos C F M Dreesen 2 collaborations

Christine E M De Die-Smulders 2 collaborations

Jörgen Bierau 2 collaborations

Bianca J C van den Bosch 2 collaborations

Ronny Derks 1 collaboration

Amber den Ouden 1 collaboration

Hilde Swinkels 1 collaboration

Jeroen van Reeuwijk 1 collaboration

Ermanno Bosgoed 1 collaboration

Dorien Lugtenberg 1 collaboration

Jordi Corominas Galbany 1 collaboration

Marjan Weiss 1 collaboration

Marinus J Blok 1 collaboration

Richelle A C M Olde Keizer 1 collaboration

Tom Hofste 1 collaboration

Debby Hellebrekers 1 collaboration

Nicole de Leeuw 1 collaboration

Alexander Stegmann 1 collaboration

Erik-Jan Kamsteeg 1 collaboration

Marjolijn J L Ligtenberg 1 collaboration

Xiangqun Zheng Bradley 1 collaboration

John Peden 1 collaboration

Alejandra Gutierrez 1 collaboration

Adam Pullen 1 collaboration

Tom Payne 1 collaboration

Marcel Nelen 1 collaboration

Helger G Yntema 1 collaboration

Rozemarijn Snoek 1 collaboration

Marijn F Stokman 1 collaboration

Klaske D Lichtenbelt 1 collaboration

Theodora C van Tilborg 1 collaboration

Cindy E Simcox 1 collaboration

Franka van Reekum 1 collaboration

A Titia Lely 1 collaboration

Nine V A M Knoers 1 collaboration

Albertien M van Eerde 1 collaboration

Dominique Pellaers 1 collaboration

Merryn V E Macville 1 collaboration

Sanne van der Hout 1 collaboration

Anke J Woudstra 1 collaboration

Wybo Dondorp 1 collaboration

Suzanne Sallevelt 1 collaboration

Neal K Lakdawala 1 collaboration

James S Ware 1 collaboration

Jodie Ingles 1 collaboration

W Dondorp 1 collaboration

J C F M Dreesen 1 collaboration

E Coonen 1 collaboration

G de Wert 1 collaboration

C E M de Die-Smulders 1 collaboration

Suzanne C E H Sallevelt 1 collaboration

Alexander P A Stegmann 1 collaboration

Crool Velter 1 collaboration

Melanie van Esch 1 collaboration

Phillis Lakeman 1 collaboration

Helger Yntema 1 collaboration

Vanessa P M van Empel 1 collaboration

Sonja de Munnik 1 collaboration

Stephane R B Heymans 1 collaboration

Kasper Derks 1 collaboration

Joseph Dreesen 1 collaboration

Anouk E J Janssen 1 collaboration

Rebekka M Koeck 1 collaboration

Ping Cao 1 collaboration

Burcu Yaldiz 1 collaboration

Maartje van de Vorst 1 collaboration

Sonja A de Munnik 1 collaboration

Chris M J van Uum 1 collaboration

Jelle Achten 1 collaboration

Lars Hamers 1 collaboration

Marjan Naghdi 1 collaboration

Ron J T van Golde 1 collaboration

Audric Cologne 1 collaboration

Clara Benoit-Pilven 1 collaboration

Alicia Besson 1 collaboration

Audrey Putoux 1 collaboration

Amandine Campan-Fournier 1 collaboration

Michael B Bober 1 collaboration

Lucile Pinson 1 collaboration

Annick Toutain 1 collaboration

Chaim M Roifman 1 collaboration

Anne-Louise Leutenegger 1 collaboration

Sylvie Mazoyer 1 collaboration

Patrick Edery 1 collaboration

Vincent Lacroix 1 collaboration

Marieke J H Coenen 1 collaboration

Marc Breuer 1 collaboration

Martijn Lindhout 1 collaboration

Demis C J Tserpelis 1 collaboration

R Koster 1 collaboration

R D Brandão 1 collaboration

D Tserpelis 1 collaboration

C E P van Roozendaal 1 collaboration

C N van Oosterhoud 1 collaboration

K B M Claes 1 collaboration

M Sinnema 1 collaboration

M Vreeburg 1 collaboration

C T R M Stumpel 1 collaboration

M P G Broen 1 collaboration

L Spruijt 1 collaboration

M C J Jongmans 1 collaboration

S A J Lesnik Oberstein 1 collaboration

A S Plomp 1 collaboration

M Misra-Isrie 1 collaboration

F A Duijkers 1 collaboration

M J Louwers 1 collaboration

R Szklarczyk 1 collaboration

K W J Derks 1 collaboration

H G Brunner 1 collaboration

A van den Wijngaard 1 collaboration

M van Geel 1 collaboration

M J Blok 1 collaboration

Guido M J M Roemen 1 collaboration

Tom E J Theunissen 1 collaboration

Ward W J Hoezen 1 collaboration

Anja R M Steyls 1 collaboration

Klara Mosterd 1 collaboration

Elisa Rahikkala 1 collaboration

Axel Zur Hausen 1 collaboration

Ernst Jan M Speel 1 collaboration

Michel van Geel 1 collaboration

N Chantal Peltenburg 1 collaboration

Jolanda A Schippers 1 collaboration

Selwyn H Lowe 1 collaboration

Mathie P G Leers 1 collaboration

Eleni-Rosalina Andrinopoulou 1 collaboration

Jaap A Bakker 1 collaboration

Annelies Verbon 1 collaboration

Sanne C C Vincenten 1 collaboration

Nienke Van Der Stoep 1 collaboration

Karlien Mul 1 collaboration

Umesh A Badrising 1 collaboration

Marjolein Kriek 1 collaboration

Olivier W H Van Der Heijden 1 collaboration

Baziel G M Van Engelen 1 collaboration

Nicol C Voermans 1 collaboration

Saskia Lassche 1 collaboration

Vivian Vernimmen 1 collaboration

Ron J van Golde 1 collaboration

Marianne L van Buul-van Zwet 1 collaboration

Irene Homminga 1 collaboration

Alwin A H A Derijck 1 collaboration

Lloyd Brandts 1 collaboration

Constance T R M Stumpel 1 collaboration